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Homozygous stop mutation in the SNX10 gene in a consanguineous Iraqi boy with osteopetrosis and corpus callosum hypoplasia.

Abstract：

:Recently a mutation in the SNX10 gene that belongs to the sorting nexin family was identified as a cause of a new subset of human autosomal recessive osteopetrosis. Here, we identified a novel homozygous mutation (c.46C > T, p.Arg16X) in SNX10, in an Iraqi boy from a consanguineous family with a history of infantile osteopetrosis. The proband exhibited macrocephaly, prominent forehead, proptosis of the eyes, strabismus, splenomegaly and joint hyperlaxity. Bone X-rays showed increased bone density, metaphyseal under-modelling, transverse alternating bands of greater and lesser density in tubular bones, anteriorly notched vertebral bodies and bone-in-bone appearance. Brain atrophy, external hydrocephalus and thin corpus callosum were noted at the brain MRI and CT scan. Blood test results revealed the presence of anaemia and leukopenia. Our findings confirm the role of SNX10 in autosomal recessive osteopetrosis and help to better define the core set of manifestations associated with this new pathological entity.

journal_name

Eur J Med Genet

journal_title

European journal of medical genetics

authors

Mégarbané A,Pangrazio A,Villa A,Chouery E,Maarawi J,Sabbagh S,Lefranc G,Sobacchi C

doi

10.1016/j.ejmg.2012.10.010

subject

Has Abstract

pub_date

2013-01-01 00:00:00

pages

32-5

issue

1

eissn

1769-7212

issn

1878-0849

pii

S1769-7212(12)00288-1

journal_volume

56

pub_type

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